S78* (p.Ser78Ter) variant of MTHFR (P42898)
S78* (p.Ser78Ter) in MTHFR (P42898) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
S78* (p.Ser78Ter) variant details
- p.Ser78Ter
- rs776969786
- ClinGen CA17975236
- ClinVar RCV000986238
- ClinVar RCV001236475
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Homocystinuria due to Deficiency of N(5,10)-Methylenetetrahydrofolate Reductase Activity. (PMID 40440437)